In more than 270 known retinopathies genes (based on RetNet), only two novel variants, c.1066C>T and c.1102+2T>C, in the MFSD8 gene (NG_008657.1 and NM_152778.4) were identified as being responsible for the macular dystrophy phenotype according to filtering steps of the methods. The gene discussed is MFSD8; the disease is retinal disorder.